所有患者在一线化疗开始时已知BRCA1/2胚系突变状态,一线含铂化疗方案可以显著改善BRCA1/2胚系突变患者(n=300)的无进展生存期(HR=0.54,95%CI:0.4～0.73;P<0.001)和总生存期(HR=0.70,95%CI:0.49～0.99;P=0.047),特别是在激素受...
(2015). Candidate gene analysis of BRCA1/2 mutation- negative high-risk Russian breast cancer patients. Cancer Lett. 359, 259-261.Sokolenko, A.P.; Preobrazhenskaya, E.V.; Aleksakhina, S.N.; Iyevleva, A.G.; Mitiushkina, N.V.; Zaitseva, O.A.; Yatsuk, O.S.; Tiurin, V....
而且,按照肿瘤诊断时间、年龄、甲基化程度等亚组分析和敏感性分析,所得HR趋势均相同,约为2倍。 由于BRCA1组成型甲基化在年轻女性中更常见[2],且TNBC、HGSOC主要发生于年轻女性,所以BRCA1组成型甲基化在年轻女性中增加的TNBC和HGSOC患癌风险可能更高。因此,有必要对WBCBRCA1启动子区甲基化的女性,尤其年轻女性,开...
单从统计学分析结果而言,与未接受放疗者相比,BRCA1/2基因胚系突变患者术后接受放疗可增加罹患第二原发肿瘤的风险,但BRCA1/2胚系突变与放疗对第二原发肿瘤的发生并显著的交叉作用,因而BRCA1/2胚系突变患者术后接受放疗可能并不会增加罹患第...
This study aimed to investigate the contralateral breast cancer (CBC) recurrence rate in Korean breast cancer patients according to their BRCA1/2 germline mutation status, focusing particularly on the CBC recurrence risk in BRCA1/2 negative (BRCAx) patie
(i) high-risk women with more relatives with breast or ovarian cancer will be more likely to test; (ii) presence of a family member with a positiveBRCA1/2test result will be associated with greater likelihood of testing; (iii) women with higher perceived risk of mutation and developing ...
Germline mutations in the BRCA1 and BRCA2 genes account for 20–25 % of inherited breast cancers and about 10 % of all breast cancer cases. Detection of BRCA mutation carriers can lead to therapeutic interventions such as mastectomy, oophorecto
This study aimed to investigate the contralateral breast cancer (CBC) recurrence rate in Korean breast cancer patients according to their BRCA1/2 germline mutation status, focusing particularly on the CBC recurrence risk in BRCA1/2 negative (BRCAx) patie
In particular, the high number of false negative calls in BRCA1 many of the models yielded low area under the precision-recall curves. BRCA-ML scores for every possible missense mutation caused by a single-nucleotide variation are also given in Supplementary Data Set 1. Fig. 1: Receiver ...
Germline mutations inBRCA1 orBRCA2 (gBRCA1/2m) confer a well-established increased risk for the development of papillary serous ovarian cancer (OC), triple-negative breast cancer (TNBC;BRCA1), oestrogen receptor (ER)-positive breast cancer (BC), and human epidermal growth factor receptor 2 (...